A Rare Hb H Hydrops Fetalis Syndrome Caused by the – –^SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient

Abstract

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart’s hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the – –^SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses. Appropriate genetic counseling and comprehensive clinical follow-up should be performed on a pregnant woman who carried an α⁰-thalassemia (α⁰-thal) deletion and had a Hb H or Hb Bart’s hydrops fetalis offspring, especially if the woman’s partner also carried a hemoglobinopathy.

Keywords:

• Hb H hydrops fetalis syndrome
• Hb Hirosaki
• unstable hemoglobin (Hb)

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was partially supported by Guangdong Natural Science Fund for Doctor Scholars [2015A030310516, to Liyan Li] and by Provincial Science and Technology Plan Project of Guangdong Province [the Sino-U.S. Joint Development Defects Transformation Medical Center Construction; 2015B050501006 to Mei Zhong].